日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

A comprehensive framework for the interpretation of TTN missense variants

用于解释 TTN 错义变异的综合框架

Di Feo, Maria Francesca; Rees, Martin; Lillback, Victoria; Kho, Ay Lin; Meybatova, Angelina; Holt, Mark; Jungbluth, Heinz; Muntoni, Francesco; Baranello, Giovanni; Sarkozy, Anna; Fiorillo, Chiara; Baratto, Serena; Bruno, Claudio; Traverso, Monica; Iacomino, Michele; Pedemonte, Marina; Brolatti, Noemi; Faravelli, Francesca; Zara, Federico; Mandarà, G M Luana; Beggs, Alan H; Genetti, Casie A; Barraza-Flores, Pamela; Rodolico, Carmelo; Messina, Sonia; Schnabel, Franziska; Balogh, Istvan; Szakszon, Katalin; Sarv, Siiri; Õunap, Katrin; Ricci, Federica Silvia; Mussa, Alessandro; Malfatti, Edoardo; Bertini, Enrico Silvio; D'Amico, Adele; Diodato, Daria; Catteruccia, Michela; Ravenscroft, Gianina; Johari, Mridul; Kurbatov, Sergei A; Chausova, Polina; Murtazina, Aysylu; Kuchina, Anna; Shchagina, Olga; Drakos, Minas; Spilioti, Martha; Evangeliou, Athanasios E; Zaganas, Ioannis; Zhong, Huahua; Luo, Sushan; Merlini, Luciano; Nguyen, Cam-Tu-Emilie; Tasca, Giorgio; Reeves, Tara; Mörner, Stellan; Danielsson, Olof; Udd, Bjarne; Gautel, Mathias; Savarese, Marco

Phenotype Variations in a Family with Various Rearrangements in the Locus of the SHOX Gene

SHOX基因位点发生不同重排的家族中表型变异

Beskorovainaya, Tatiana S; Markova, Tatiana V; Polyakov, Aleksander V; Shchagina, Olga A; Kenis, Vladimir M

Two Years of Expanded Newborn Screening in Russia: High-Throughput Detection of Inherited Metabolic Disorders by Tandem Mass Spectrometry with Next-Generation Sequencing Confirmation

俄罗斯新生儿筛查扩大化两年:利用串联质谱高通量检测遗传代谢疾病并进行新一代测序确认

Zakharova, Ekaterina Y; Baydakova, Galina V; Baranova, Polina V; Aleksandrova, Darya Y; Shchagina, Olga A; Itkis, Yulia S; Milovanova, Natalya V; Nagornova, Tatyana S; Ivanova, Olga N; Nazarenko, Yana D; Voronin, Sergey V; Chukhrova, Alena L; Kadnikova, Varvara A; Lotnik, Ekaterina E; Ryadninskaya, Nina V; Polyakov, Aleksander V; Savostyanov, Kirill V; Bilalov, Fanil S; Koroteev, Alexander L; Trofimov, Dmitry Y; Bairova, Tatyana A; Seitova, Gulnara N; Mordanov, Sergei V; Matulevich, Svetlana A; Nikolaeva, Elena B; Kutsev, Sergey I

A Spectrum of Pathogenic Variants in the LAMA2 Gene in the Russian Federation

俄罗斯联邦LAMA2基因致病变异谱

Chausova, Polina; Cherevatova, Tatiana; Dadali, Elena; Murtazina, Aysylu; Bulakh, Maria; Kurbatov, Sergei; Anisimova, Inga; Kanivets, Ilya; Udalova, Vasilisa; Rudenskaya, Galina; Demina, Nina; Sharkova, Inna; Monakhova, Anastasia; Tsygankova, Polina; Markova, Tatiana; Ryzhkova, Oksana; Shatohina, Olga; Galkina, Varvara; Borovikov, Artem; Mishina, Irina; Shchagina, Olga; Chukhrova, Alena; Polyakov, Aleksander

Exploring the Prevalence of SMN1 Duplication and Deletion in Russia and Its Impact on Carrier Screening

探讨SMN1基因重复和缺失在俄罗斯的流行情况及其对携带者筛查的影响

Mikhalchuk, Kristina; Polyakov, Aleksander; Zabnenkova, Viktoria V; Ismagilova, Olga; Shchagina, Olga

The Basis of Diversity in Laminopathy Phenotypes Caused by Variants in the Intron 8 Donor Splice Site of the LMNA Gene

LMNA基因内含子8供体剪接位点变异导致层粘蛋白病表型多样性的基础

Shchagina, Olga; Gilazova, Leisan; Filatova, Alexandra; Vafina, Zulfiia; Murtazina, Aysylu; Chigvintceva, Polina; Kudryashova, Olga; Polyakov, Aleksander; Kutsev, Sergey; Bulakh, Maria; Skoblov, Mikhail

Genetic and Clinical Features of Schimke Immuno-Osseous Dysplasia: Single-Centre Retrospective Study of 21 Unrelated Paediatric Patients over a Period of 20 Years

Schimke免疫骨发育不良的遗传和临床特征:一项对21例无亲缘关系的儿科患者进行20年回顾性研究的单中心研究

Milovanova, Anastasiia; Ananin, Petr; Vashurina, Tatiana; Zrobok, Olga; Dmitrienko, Svetlana; Ryaposova, Alla; Tsygina, Elena; Pushkov, Alexander; Zhanin, Ilya; Chudakova, Daria; Asanov, Aliy; Shchagina, Olga; Polyakov, Aleksander; Fisenko, Andrey; Savostyanov, Kirill; Tsygin, Alexey

Balanced Translocations Involving the DMD Gene as a Cause of Muscular Dystrophy in Female Children: A Description of Three Cases

涉及DMD基因的平衡易位是导致女性儿童肌营养不良症的原因:三例病例报告

Vorontsova, Ekaterina O; Murtazina, Aysylu; Zinina, Elena; Polyakov, Alexander V; Sumina, Maria; Rybakova, Olga A; Vlodavets, Dmitry; Kazakov, Dmitry; Suvorova, Yulia; Sharkova, Inna V; Demina, Nina A; Repina, Svetlana A; Bulanova, Vera A; Antonova, Maria; Dadali, Elena; Marakhonov, Andrey V; Shilova, Nadezhda V; Kutsev, Sergey I; Shchagina, Olga A

Harmonizing TREC Thresholds in Newborn Screening for SCID: Insights From Russian Validation Cohort

统一新生儿SCID筛查中的TREC阈值:来自俄罗斯验证队列的启示

Marakhonov, Andrey; Kalinina, Ekaterina; Larin, Sergey; Khadzhieva, Maryam; Dudina, Ekaterina; Mukhina, Anna; Rodina, Yulia; Efimova, Irina; Balinova, Natalya; Sermyagina, Irina; Shchagina, Olga; Zinchenko, Rena; Voronin, Sergey; Shcherbina, Anna; Kutsev, Sergey

Duchenne Muscular Dystrophy in the Republic of North Ossetia-Alania: Epidemiological Study, Diagnostic Issues, and Treatment Prospects

北奥塞梯-阿兰共和国杜氏肌营养不良症:流行病学研究、诊断问题和治疗前景

Zinchenko, Rena; Tebieva, Inna; Murtazina, Aysylu; Ionova, Sofya; Zhmurova-Kriventsova, Alisa; Shchagina, Olga; Zinina, Elena; Gabisova, Yulia; Khokhova, Alana; Tokazova, Marina; Ikaev, Murat; Remizov, Oleg; Popovich, Sofia; Kuzenkova, Ludmila; Marakhonov, Andrey; Kutsev, Sergey